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Journal of Pediatric Surgery Case Reports 16 (2017) 43e45 Contents lists available at ScienceDirect Journal of Pediatric Surgery Case Reports journal homepage: www.jpscasereports.com An unusual occurrence of isolated thoracoschisis Derek de Grijs a, Narek Israelyan b, Greggory R DeVore c, Steve C Chen d, Shant Shekherdimian e, * a Huntington Memorial Hospital, 100 W California Blvd, Pasadena, CA 91105, USA Columbia University College of Physicians and Surgeons, 630 W 168th St, New York, NY 10032, USA c Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, 10833 Le Conte Ave, Los Angeles, CA 90095, USA d Department of Surgery, David Geffen School of Medicine at UCLA, 10833 Le Conte Ave Box # 709818, Los Angeles, CA 90095, USA e Division of Pediatric Surgery, Department of Surgery, University of California, Los Angeles, 10833 Le Conte Ave Box # 709818, Los Angeles, CA 90095, USA b a r t i c l e i n f o a b s t r a c t Article history: Received 15 May 2016 Received in revised form 11 November 2016 Accepted 13 November 2016 Available online 16 November 2016 Thoracoschisis is a rare congenital malformation that is frequently associated with limb and abdominal wall defects Here we present only the third case of isolated thoracoschisis with no associated limb abnormalities A female infant was born at 38 weeks via C section and was found to have a chest wall defect measuring cm superior to a low-set left nipple Reduction of eviscerated abdominal contents including liver, stomach, and transverse colon with closure of overlying skin was successfully performed on first day of life The unique findings in the current case could ultimately shed light on the pathophysiology of thoracoschisis and its embryological origins © 2016 The Authors Published by Elsevier Inc This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/) Keywords: Isolated thoracoschisis Limb-body wall complex Rib agenesis Gastroschisis Thoracoschisis is a rare congenital anomaly characterized by the herniation of intra-abdominal organs through a thoracic wall defect It may present itself as an isolated anomaly, or more commonly, in association with the limb-body wall complex (LBWC) [1e3] The etiology of isolated thoracoschisis remains ill-defined, though the pattern of these defects does appear to provide some insight into the timing of the causative disruptive event in utero There are only previous cases of isolated thoracoschisis, with one survivor [5,6] We present the first female case, and only the second survivor Case report A 19-year-old mother underwent routine ultrasound at 23-week gestation during her first pregnancy This demonstrated an otherwise normal appearing female infant with a skin covered mass consistent with abdominal contents protruding from the chest Mid-pregnancy Alpha-fetoprotein (AFP) levels were noted to be * Corresponding author E-mail addresses: derek.degrijs@gmail.com (D de Grijs), ni2202@cumc columbia.edu (N Israelyan), grneuora@gmail.com (G.R DeVore), scchen@mednet ucla.edu (S.C Chen), sshekherdimian@mednet.ucla.edu (S Shekherdimian) normal Additionally, the mother did not report any drug or medication use during pregnancy The fetus was carried uneventfully to term A female infant was subsequently born at 38 weeks via C-section weighing 2850 g Upon birth she was found to have abdominal contents eviscerating through a chest wall defect measuring cm superior to a low-set left nipple at the midclavicular line There was no overlying amniotic sac or membrane present Anterior portions of ribs 4e6 were congenitally absent An orogastric tube was passed into the stomach, and this was visualized outside of the thorax on x-ray imaging There were no limb abnormalities, and echocardiogram was normal (see Fig 1) Following h of resuscitation in the neonatal intensive care unit, the baby was taken to the operating room for reduction of the evisceration Initial attempts at reducing the abdominal contents through the chest wall defect were unsuccessful due to local adhesions A separate left subcostal incision was made in order to reduce the abdominal contents through a presumed diaphragmatic hernia From this incision, evaluation of the diaphragm was limited and no hernia was identified Further investigation of the diaphragm was then undertaken via insertion of a mm laparoscope through the surgically created subcostal incision, in the absence of pneumoperitoneum This laparoscopic evaluation identified an intact diaphragm above the level of the chest wall defect The http://dx.doi.org/10.1016/j.epsc.2016.11.007 2213-5766/© 2016 The Authors Published by Elsevier Inc This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/) 44 D de Grijs et al / Journal of Pediatric Surgery Case Reports 16 (2017) 43e45 Fig Intra-operative photo taken after reduction of abdominal contents using a separate left subcostal incision Fig Pre-operative photo of abdominal contents eviscerating through cm chest wall defect abdominal contents, containing portions of the liver, stomach, and transverse colon were then reduced via the subcostal incision The skin overlying the chest wall defect was then closed primarily Underlying soft tissue structures were not amenable to primary closure, and the decision was made not to close the chest wall defect with exogenous materials due to concerns surrounding the patient's expected rapid growth (see Fig 2) The patient had an unremarkable post-operative course She was extubated on the first day post-operatively, began feeds days later, weaned off oxygen and was otherwise ready for discharge on post-operative day 10 Ultimately she was discharged home with a customized external protective brace and plans for a staged chest wall reconstruction (see Fig 3) Discussion Thoracoschisis is an exceptionally rare congenital malformation characterized by the herniation of abdominal contents though a thoracic wall defect Previously, there have been seven case reports of thoracoschisis, with only two being isolated [1e3,5e8] We describe the third case of isolated thoracoschisis, that is, an occurrence of thoracoschisis without any associated abnormality such as a diaphragmatic defect or limb-body wall complex Additionally, our case represents the first female with isolated thoracoschisis, and the second surviving infant with this abnormality (see Table 1) Our case is similar to the two previously reported cases of isolated thoracoschisis in that the chest wall defect was left-sided and less than cm in diameter, the eviscerated abdominal contents had no covering amniotic sac, and the elevated left hemi-diaphragm to a level just above the thoracoschisis defect These similarities would seem to provide some insight to the embryologic origins of Fig Post-operative photo taken at months of age Plans made for a chest wall reconstruction before year of life D de Grijs et al / Journal of Pediatric Surgery Case Reports 16 (2017) 43e45 45 Table Previous published cases of thoracoschisis Author Year Davies & Cywes [1] 1977 Bamforth et al [7] 1992 Derbent & Balci [8] 2001 Biri et al [2] 2006 Isolated thoracoschisis cases Karaman et al [5] 2011 Seleim et al [6] 2014 Present Case 2015 Gender Side Diaphragmatic defect Body wall defect Limb defect Outcome F F F F L L R L N N N N N N N N Y Y N Y Survived Survived Intrauterine Death Intrauterine Death M M F L L L N N N N N N N N N Survived Died DOL Survived this abnormality It appears that the embryologic origin of thoracoschisis differs from that of gastroschisis It is thought that the origin of gastroschisis may be linked to abnormalities in the lateral body wall folds responsible for closing the thoracic, abdominal, and pelvic portions of the ventral body wall medially The body wall defects described in LBWC, and in the previously published cases of thoracoschisis, occurred in the lateral body and included an absence of skin, muscle, and peritoneum The lateral body wall defect in LBWC suggests that the disruptive event occurred prior to the ventral fusion of the body wall [4] Additionally, the intact elevated hemi-diaphragm seen in all three cases of isolated thoracoschisis may give us some insight to the timing of the formation the thoracic wall defect It is possible that the development of the thoracic wall defect is secondary to a congenitally elevated hemi-diaphragm In the absence of an elevated diaphragm, it would not be possible for herniation of intra-abdominal contents without diaphragmatic herniation The notable difference in our case, as compared to all of the previously reported cases of thoracoschisis, is the presence of segmental rib agenesis of ribs 4e6 The previous two cases of isolated thoracoschisis described only a widened intercostal space with increased separation of the associated ribs It is feasible to hypothesize that the herniation of abdominal contents may have occurred at an earlier point in development in the current case, thus disrupting traditional rib formation It should also be noted that in our case normal AFP values were observed throughout pregnancy, further delineating this disease process from that of gastroschisis Elevated AFP levels are usually seen in congenital abdominal wall defects, with more dramatic elevations being seen in gastroschisis as compared to omphalocele [9] AFP values were not reported for the previous cases of isolated thoracoschisis, but have been found to be elevated in cases of thoracoschisis with associated diaphragmatic hernia [2] These inconsistent elevations in AFP levels could be a direct result of the relatively lower amounts of the gastrointestinal tract exposed to the amniotic fluid during pregnancy in thoracoschisis as compared to gastroschisis Conclusion Isolated thoracoschisis is a rare condition with only prior reports and one previous survivor The current case presents with unique findings which could ultimately shed light on the pathophysiology of this condition as well as its relations to traditional gastroschisis Pre-natal findings of a chest wall mass or herniation of abdominal contents superior and lateral to the umbilicus should raise concern for thoracoschisis regardless of AFP levels Conflicts of interest The authors declare that they have no conflicts of interest References [1] Davies MR, Rode H, Cywes S “Thoracoschisis” associated with an ipsilateral distal phocomelia and an anterolateral diaphragmatic herniaea case report J Pediatr Surg 1977;12:755e7 [2] Biri A, Korucuoglu U, Turp A, Karaoguz M, Himmetoglu O, Balci S A new syndrome with prenatally diagnosed thoracoschisis, hiatal hernia and extremities' agenesis: case report Genet Couns 2006;17:161e5 [3] Bhattacharyya NC, Gogoi M, Deuri PK Thoracoschisis with limb agenesis J Indian Assoc Pediatr Surg 2012;17:78e9 http://dx.doi.org/10.4103/09719261.93972 [4] Van Allen MI, Curry C, Gallagher L Limb body wall complex: I Pathogenesis Am J Med Genet 1987;28:529e48 http://dx.doi.org/10.1002/ajmg.1320280302 [5] Karaman I, Karaman A, Erdogan D, Cavusoglu YH, Ozguner IF The first male with thoracoschisis: case report and review of the literature J Pediatr Surg 2011;46:2181e3 http://dx.doi.org/10.1016/j.jpedsurg.2011.08.016 [6] Seleim HM, ElFiky MM, Fares AE, Elbarbary MM Isolated thoracoschisis: case report and review of literature Eur J Pediatr Surg Rep 2015;3:40e2 http:// dx.doi.org/10.1055/s-0034-1396013 [7] Bamforth JS, Fabian C, Machin G, Honore L Poland anomaly with a limb body wall disruption defect: case report and review Am J Med Genet 1992;43: 780e4 http://dx.doi.org/10.1002/ajmg.1320430504 [8] Derbent M, Balci S Thoracoschisis associated with diaphragmatic hernia in a 31-week-old stillbirth Turk J Pediatr 2001;43:269e71 [9] Ledbetter DJ Gastroschisis and omphalocele Surg Clin N Am 2006;86(2): 249e60 http://dx.doi.org/10.1016/j.suc.2005.12.003 ... seven case reports of thoracoschisis, with only two being isolated [1e3,5e8] We describe the third case of isolated thoracoschisis, that is, an occurrence of thoracoschisis without any associated... first female with isolated thoracoschisis, and the second surviving infant with this abnormality (see Table 1) Our case is similar to the two previously reported cases of isolated thoracoschisis. .. compared to all of the previously reported cases of thoracoschisis, is the presence of segmental rib agenesis of ribs 4e6 The previous two cases of isolated thoracoschisis described only a widened intercostal